Variant report

Variant	rs17133945
Chromosome Location	chr11:75111173-75111174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr11:75110286-75111216	H1-neurons	neurons:	n/a	n/a
2	CBX3	chr11:75110137-75111208	K562	blood:	n/a	n/a
3	SIN3A	chr11:75110324-75111927	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZZZ3	chr11:75110527-75111744	GM12878	blood:	n/a	n/a
5	MYC	chr11:75110333-75111458	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:75111119-75111897	GM12891	blood:	n/a	n/a
7	PML	chr11:75110101-75111871	GM12878	blood:	n/a	chr11:75110964-75110972
8	CHD1	chr11:75109974-75112110	IMR90	lung:	n/a	n/a
9	MYC	chr11:75110270-75111287	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr11:75110282-75111180	K562	blood:	n/a	n/a
11	POLR2A	chr11:75110328-75112208	GM12892	blood:	n/a	n/a
12	GABPA	chr11:75110126-75111492	MCF-7	breast:	n/a	n/a
13	POLR2A	chr11:75110119-75120367	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr11:75111108-75111904	HCT-116	colon:	n/a	n/a
15	TEAD4	chr11:75110132-75111916	K562	blood:	n/a	n/a
16	POLR2A	chr11:75110255-75120255	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:75110199-75112429	HUVEC	blood vessel:	n/a	n/a
18	TAF7	chr11:75110325-75111173	H1-hESC	embryonic stem cell:	n/a	n/a
19	MTA3	chr11:75110114-75111309	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:75111164-75111888	H1-hESC	embryonic stem cell:	n/a	n/a
21	UBTF	chr11:75110415-75111355	K562	blood:	n/a	n/a
22	TAF1	chr11:75110302-75111228	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr11:75111161-75111758	HepG2	liver:	n/a	n/a
24	MYC	chr11:75110283-75111651	K562	blood:	n/a	n/a
25	TAF1	chr11:75110236-75111355	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr11:75110225-75111927	K562	blood:	n/a	n/a
27	ELF1	chr11:75110183-75111305	A549	lung:	n/a	chr11:75110574-75110586 chr11:75110539-75110552
28	MXI1	chr11:75110161-75113092	SK-N-SH	brain:	n/a	n/a
29	SMC3	chr11:75110343-75111176	Hela-S3	cervix:	n/a	n/a
30	MAX	chr11:75110093-75111839	HCT-116	colon:	n/a	n/a
31	POLR2A	chr11:75110299-75111758	HUVEC	blood vessel:	n/a	n/a
32	NFATC1	chr11:75110180-75112095	GM12878	blood:	n/a	n/a
33	REST	chr11:75110053-75111779	H1-neurons	neurons:	n/a	n/a
34	MYC	chr11:75110299-75111924	K562	blood:	n/a	n/a
35	MYBL2	chr11:75110149-75111198	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:75110240-75112689	HUVEC	blood vessel:	n/a	n/a
37	HEY1	chr11:75110313-75111630	K562	blood:	n/a	n/a
38	RELA	chr11:75110336-75111758	GM15510	blood:	n/a	n/a
39	USF2	chr11:75110307-75111826	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:75110248-75111721	U87	brain:	n/a	n/a
41	POLR2A	chr11:75110237-75112040	SK-N-SH	brain:	n/a	n/a
42	MXI1	chr11:75110374-75111769	K562	blood:	n/a	n/a
43	POLR2A	chr11:75110345-75111780	IMR90	lung:	n/a	n/a
44	CREB1	chr11:75110122-75111249	HepG2	liver:	n/a	n/a
45	MYC	chr11:75110231-75111443	NB4	blood:	n/a	n/a
46	MXI1	chr11:75110377-75111322	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr11:75110526-75112764	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:75110310-75118425	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:75110358-75111911	HepG2	liver:	n/a	n/a
50	TEAD4	chr11:75110266-75111411	K562	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75109252..75112429-chr11:75150436..75153898,3	MCF-7	breast:
2	chr11:75110328..75112822-chr11:75272063..75275236,3	MCF-7	breast:
3	chr11:75108861..75111951-chr11:75234433..75238212,4	K562	blood:
4	chr11:75110425..75112120-chr11:75294136..75297612,3	K562	blood:
5	chr11:75109851..75112831-chr11:75160838..75163878,3	MCF-7	breast:
6	chr11:75109346..75112415-chr11:75273833..75276890,5	K562	blood:
7	chr11:75044252..75049039-chr11:75109874..75112804,4	K562	blood:
8	chr11:75109278..75112345-chr11:75158089..75162369,4	K562	blood:
9	chr11:75061780..75064300-chr11:75109349..75111939,3	MCF-7	breast:
10	chr11:75109502..75112547-chr11:75141371..75143241,3	K562	blood:
11	chr11:75109916..75112430-chr11:75138205..75142577,6	MCF-7	breast:
12	chr11:75109502..75112547-chr11:75141371..75144789,4	K562	blood:
13	chr11:75013957..75016437-chr11:75109454..75111364,2	MCF-7	breast:
14	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
15	chr11:75109363..75113212-chr11:75271581..75274783,5	MCF-7	breast:
16	chr11:75110249..75114230-chr11:75150071..75153287,3	K562	blood:
17	chr11:75110584..75111519-chr6:26250572..26251295,2	NB4	blood:
18	chr11:75110054..75112415-chr11:75273833..75275586,2	K562	blood:
19	chr11:75108774..75112522-chr11:75157873..75162369,8	K562	blood:
20	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:
21	chr11:74991337..74994595-chr11:75109481..75112048,3	MCF-7	breast:
22	chr11:75061972..75065288-chr11:75110522..75113942,5	K562	blood:
23	chr11:75110363..75111935-chr11:75135955..75138185,2	K562	blood:

No data

Variant related genes	Relation type
SNORD15A	TF binding region
RPS3	TF binding region
SNORD15B	TF binding region
ENSG00000256316	Chromatin interaction
ENSG00000137486	Chromatin interaction
ENSG00000199090	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000255326	Chromatin interaction
ENSG00000158555	Chromatin interaction
ENSG00000149243	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17880356	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883225	1.00[AMR][1000 genomes]
rs17883451	0.89[AFR][1000 genomes]
rs17883509	0.89[AFR][1000 genomes]
rs7119129	0.83[AFR][1000 genomes]
rs7122426	0.81[AFR][1000 genomes]
rs7123178	0.89[AFR][1000 genomes]
rs7934329	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75110200-75111200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:75110200-75111200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:75110200-75111200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:75110200-75111200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr11:75110200-75111200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:75110200-75111200	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr11:75110200-75111200	Active TSS	Stomach Smooth Muscle	stomach
8	chr11:75110200-75111200	Active TSS	GM12878-XiMat	blood
9	chr11:75110200-75111400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:75110200-75111400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:75110200-75111400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:75110200-75112200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:75110400-75111200	Active TSS	Primary B cells from peripheral blood	blood
14	chr11:75110400-75111200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:75110400-75111200	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr11:75110400-75111200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:75110400-75111200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:75110400-75111200	Active TSS	Brain Anterior Caudate	brain
19	chr11:75110400-75111200	Active TSS	Brain Cingulate Gyrus	brain
20	chr11:75110400-75111200	Active TSS	Colon Smooth Muscle	Colon
21	chr11:75110400-75111200	Active TSS	Placenta Amnion	Placenta Amnion
22	chr11:75110400-75111200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:75110400-75111200	Active TSS	HSMM	muscle
24	chr11:75110400-75111200	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr11:75110400-75111400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:75110400-75111400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:75110400-75111400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:75110400-75111400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:75110400-75111400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr11:75110400-75111400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr11:75110400-75111400	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr11:75110400-75111400	Active TSS	Brain Germinal Matrix	brain
33	chr11:75110400-75111400	Active TSS	Brain Hippocampus Middle	brain
34	chr11:75110400-75111400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr11:75110400-75111400	Active TSS	Fetal Kidney	kidney
36	chr11:75110400-75111400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:75110400-75111400	Active TSS	Fetal Muscle Leg	muscle
38	chr11:75110400-75111400	Active TSS	Spleen	Spleen
39	chr11:75110400-75111600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:75110400-75111600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:75110400-75111600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr11:75110400-75111600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:75110400-75111600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr11:75110400-75111600	Active TSS	Thymus	Thymus
45	chr11:75110400-75111800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:75110400-75111800	Active TSS	Right Atrium	heart
47	chr11:75110400-75112000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:75110400-75112000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:75110400-75112000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:75110400-75112000	Active TSS	Fetal Intestine Large	intestine

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